Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.
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Autosomal recessive nonsyndromic deafness genes: a reviewGenetics of Nonsyndromic Congenital Hearing LossDiscovery of CLC transport proteins: cloning, structure, function and pathophysiologyThe Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani PopulationsAnion transport by the cochlear motor protein prestinNeonatal Bartter syndrome associated with ileal atresia and cystic fibrosisCLC channel function and dysfunction in health and disease.Physiology and pathophysiology of ClC-K/barttin channels.Identification of missense mutation (I12T) in the BSND gene and bioinformatics analysisHuman CLC-K Channels Require Palmitoylation of Their Accessory Subunit Barttin to Be FunctionalDFNB86, a novel autosomal recessive non-syndromic deafness locus on chromosome 16p13.3.Tryptophan Scanning Mutagenesis Identifies the Molecular Determinants of Distinct Barttin Functions.A p.C343S missense mutation in PJVK causes progressive hearing lossThe c.42_52del11 mutation in TPRN and progressive hearing loss in a family from PakistanCell biology and physiology of CLC chloride channels and transporters.Non-syndromic hereditary sensorineural hearing loss: review of the genes involved.Regulatory-auxiliary subunits of CLC chloride channel-transport proteins.ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3.Bartter and Gitelman syndromes: Spectrum of clinical manifestations caused by different mutations.Reduced Membrane Insertion of CLC-K by V33L Barttin Results in Loss of Hearing, but Leaves Kidney Function Intact.Barttin activates ClC-K channel function by modulating gating.Anion- and proton-dependent gating of ClC-4 anion/proton transporter under uncoupling conditions.Functional severity of CLCNKB mutations correlates with phenotypes in patients with classic Bartter's syndrome.Novel CLCNKB mutations causing Bartter syndrome affect channel surface expression.Activation of renal ClC-K chloride channels depends on an intact N terminus of their accessory subunit barttin.Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies.
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P2860
Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 30 July 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Molecular basis of DFNB73: mut ...... deafness or Bartter syndrome.
@en
Molecular basis of DFNB73: mut ...... deafness or Bartter syndrome.
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type
label
Molecular basis of DFNB73: mut ...... deafness or Bartter syndrome.
@en
Molecular basis of DFNB73: mut ...... deafness or Bartter syndrome.
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prefLabel
Molecular basis of DFNB73: mut ...... deafness or Bartter syndrome.
@en
Molecular basis of DFNB73: mut ...... deafness or Bartter syndrome.
@nl
P2093
P2860
P1476
Molecular basis of DFNB73: mut ...... c deafness or Bartter syndrome
@en
P2093
Ahmad U Zafar
Audrey G H Janssen
Inna A Belyantseva
Martin Fischer
Penelope L Friedman
Saima Anwar
Saima Riazuddin
Shahid Y Khan
Sheikh Riazuddin
Tayyab Husnain
P2860
P304
P356
10.1016/J.AJHG.2009.07.003
P407
P577
2009-07-30T00:00:00Z